The financial burden experienced by families during NICU hospitalization and after discharge: A single center, survey-based study.

To investigate a broad array of costs and perceived financial burden (FB) faced by families of NICU graduates both during hospitalization and after discharge. Cross-sectional survey-based study design. A survey measuring socio-demographics, direct non-medical costs, indirect costs, social support and perceived FB was developed. One-hundred-twenty-two pairs of parents of NICU graduates participated in the study. Most of the families (87.7%) experienced FB due to NICU hospitalization. The median cost of visiting infant during NICU admission was 615 euros (range: 42,7320). FB correlated with cost for drugs (ρ = .271, p < .05, 95%CI:[.020, .490]), dietary supplement (ρ = .385, p < .05, CI:[.010, .665]), behavioral disorders (ρ = -.186, p < .05, 95%CI:[-.356, -.003]), language delay (ρ = .243, p < .01, CI:[-.408, -.063]) and comorbidities (ρ = -.206, p < .05, 95% CI:[-.374, -.024]). Transportation costs due to medical visits (ρ = .415, p < .01, 95% CI:[.239, .564]) and therapy sessions (ρ = .517, p < .05, CI:[.121, .771]) correlated with higher FB. Grandparents of the infant were the most frequent source of help (86.1%). Families having infants with adverse outcome experienced more hospitalizations after NICU discharge (p < .05) and higher FB (p < .01) than families with typically developing infant. Lack of government financial help was associated with higher perceived FB (CI:[1.117,29.127], p < .05).    Conclusions: Our findings demonstrated that parents of NICU graduates experience high rates of FB, highlighting their sources (e.g., grandparents support) and difficulties (e.g., private therapy costs) through the lens of patient perspective. Our study promotes reflection on policies which should be adopted from the European health services that are similar to the Italian one to support NICU graduate families and reduce inequalities. What is Known: • Families of NICU graduates face several kinds of costs during hospitalization and after discharge. What is New: • NICU hospitalization is a multifaceted event that impact financial burden experienced by families. • NICU graduate families whose infant had adverse outcome and felt lack of financial help from local policy makers experience higher rates of financial burden.

Impact of psychological distress and psychophysical wellbeing on posttraumatic symptoms in parents of preterm infants after NICU discharge.

BACKGORUND: Parents after Neonatal Intensive Care Unit (NICU) hospitalization of preterm infant may develop psychopathological symptoms. The aim of the study was to determine how parental stress and psychophysical wellbeing affect posttraumatic symptoms (PTTS) in parents during the first year after NICU discharge. Moreover, this study aimed to explore any gender-specific difference in psychological distress among mothers and fathers. METHODS: Prospective study design from September 2018 to September 2019. 20 pairs of parents of preterm infants admitted to a tertiary-level NICU were enrolled. Primary outcome was evaluation of PTTS in parents of preterm infants at one year after NICU discharge through Impact of Event Scale- Revised. Secondary outcomes were: impact of parental stress, psychophysical wellbeing, anxiety and depression respectively through Parental Stressor Scale: NICU, Short Form Health Survey-36(SF-36), Self-rating Anxiety Scale and Self-rating Depression Scale. RESULTS: Mothers experienced higher rates of PTTS than fathers across the first year after NICU discharge (55% vs 20%). Maternal avoidance symptoms were associated with perception of their own infant look. Emotional aspects linked to maternal role predicted 36,8% of their hyperarousal symptoms. Maternal PTTS severity was predicted by their social functioning. Paternal mental health was associated both with maternal and paternal intrusive symptoms.. Maternal stress was associated with paternal avoidance symptoms. Paternal mental health predicted their hyperarousal symptoms (40%) and PTSD severity (52%). CONCLUSIONS: Parents who experienced NICU hospitalization of their own infant are at heightened risk to develop psychopathological symptoms. According to our initial hypothesis, investigating parental psychophysical wellbeing, through SF-36, originally provides a valuable support to detect parents at higher risk to develop posttraumatic outcomes across the first year after NICU discharge. In addition, paternal depression deserves to be taken into account since hospitalization as it could impact paternal PTSD development. Finally, these findings provide an initial evidence of gender-related patterns in PTSD development and psychological distress among mothers and fathers across the first year of their infant.

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.

BACKGROUND: Twenty-five patients with Niemann Pick disease type C (age range: 7 months to 44 years) were enrolled in an Italian independent multicenter trial and treated with miglustat for periods from 48 to 96 months. METHODS: Based on the age at onset of neurological manifestations patients' phenotypes were classified as: adult (n = 6), juvenile (n = 9), late infantile (n = 6), early infantile (n = 2). Two patients had an exclusively visceral phenotype. We clinically evaluated patients' neurological involvement, giving a score of severity ranging from 0 (best) to 3 (worst) for gait abnormalities, dystonia, dysmetria, dysarthria, and developmental delay/cognitive impairment, and from 0 to 4 for dysphagia. We calculated a mean composite severity score transforming the original scores proportionally to range from 0 to 1 to summarize the clinical picture of patients and monitor their clinical course. RESULTS: We compared the results after 24 months of treatment in 23 patients showing neurological manifestations. Stabilization or improvement of all parameters was observed in the majority of patients. With the exception of developmental delay/cognitive impairment, these results persisted after 48-96 months in 41 - 55% of the patients (dystonia: 55%, dysarthria: 50%, gait abnormalities: 43%, dysmetria: 41%, respectively). After 24 months of therapy the majority of the evaluable patients (n = 20), demonstrated a stabilization or improvement in the ability to swallow four substances of different consistency (water: 65%, purée: 58%, little pasta: 60%, biscuit: 55%). These results persisted after 48-96 months in 40-50% of patients, with the exception of water swallowing. Stabilization or improvement of the composite severity score was detected in the majority (57%) of 7 patients who were treated early (within 3.5 years from onset) and rarely in patients who received treatment later. CONCLUSIONS: The results of this study suggest that miglustat treatment can improve or stabilize neurological manifestations, at least for a period of time; the severity of clinical conditions at the beginning of treatment can influence the rate of disease progression. This conclusion applies particularly to patients with juvenile or adult onset of the disease. TRIAL REGISTRATION: EudraCT number 2006-005842-35.

Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells.

Pompe disease is a rare autosomal recessive myopathy due to the deficiency of lysosomal acid alpha-glucosidase. Clinical phenotypes range from the severe classic infantile form (hypotonia and hypertrophic cardiomyopathy), to milder late onset forms (skeletal myopathy and absence of significant heart involvement). Enzyme replacement therapy with recombinant human alpha-glucosidase derived from either rabbit milk or Chinese hamster ovary cells has been introduced and is undergoing clinical trials. Reported is a long-term follow-up of 3 Pompe patients presenting without cardiomyopathy, treated with recombinant human alpha-glucosidase derived from Chinese hamster ovary cells. This study suggests that enzyme replacement therapy can lead to significant motor and respiratory improvement in the subgroup of patients who start the therapy before extensive muscle damage has occurred. The recombinant enzyme derived from Chinese hamster ovary cells, administered at doses significantly higher than previously reported, appears to have the same safety as the drug derived from rabbit milk.

Neonatal urinary cotinine correlates with behavioral alterations in newborns prenatally exposed to tobacco smoke.

Altered behavior due to prenatal smoke exposure was examined in 25 neonates born from smoking mothers who consumed at least 5 cigarettes/d during the entire gestation. Data were compared with 25 matched neonates born from nonsmoking mothers. Neonatal behavior was evaluated using the Brazelton Neonatal Behavioral Assessment Scale (BNBAS). Antenatal exposure to tobacco smoke at the end of the pregnancy was determined by measurement of urinary cotinine. Newborns from smoking mothers showed significant lower scores in various BNBAS items compared with neonates from nonsmoking mothers. A strong correlation was observed between infant irritability and urinary cotinine in newborns from smoker and nonsmoking mothers and with number of daily smoked cigarettes and maternal nicotine daily intake of infants exposed to active maternal smoking. Linear regression analysis showed that urinary cotinine was the best predictor of infant irritability (r(2) = 0.727). The latter was also associated to the neonate's low level of attention and poor response to inanimate auditory stimuli. Among infants from nonsmoking mothers, paternal smoking significantly correlated with infant urinary cotinine and infant irritability, being also the best predictor of irritability (r(2) = 0.364). Neonatal behavior can be significantly altered in a dose-dependent manner even after modest prenatal exposure to tobacco smoke.

Brain damage in glycogen storage disease type I.

OBJECTIVE: To investigate brain morphology and function in patients with glycogen storage disease type I (GSDI). STUDY DESIGN: Nineteen patients (13 females and 6 males, aged 0.9-22.6 years) and 38 sex- and age-matched controls entered the study. Neurological examinations, psychometric tests (IQ, tests of performance and verbal abilities), standard electroencephalogram (EEG), somatosensory (SEPs), visual (VEPs), and brain-stem auditory evoked potentials (BAEPs), and brain magnetic resonance imaging (MRI) were performed. RESULTS: The results of tests of performance ability were lower in patients than in controls (P <.05). The prevalence of abnormal EEG findings (26.3% versus 2.6%), VEPs (38.4% versus 7.7%), SEPs (23.0% versus 0%), and BAEPs abnormalities (15.7% versus 0%) was higher in patients than in controls (P <.05). MRI pattern was altered in 57.1% of patients and was normal in all controls (P <.05). Both results of tests of performance ability and BAEPs abnormalities significantly correlated with the frequency of admissions for hypoglycemia, whereas EEG abnormalities correlated with dietary compliance (P <.05). CONCLUSIONS: Brain damage, probably caused by recurrent severe hypoglycemia, may be present in patients with GSDI.

Moderate hyperbilirubinemia induces a transient alteration of neonatal behavior.

OBJECTIVE: To investigate the behavioral changes induced by moderate hyperbilirubinemia in the otherwise healthy, untreated newborn infant. METHODS: Fifty term neonates (23 boys) with untreated moderate hyperbilirubinemia (median: 14.3 mg/dL; range: 13.2-20 mg/dL) and 50 matched control subjects with lower bilirubin concentrations (median: 9.1 mg/dL; range: 5.3-12 mg/dL) were administered the Brazelton Neonatal Behavioral Scale at 87 hours of life (range: 72-110 hours). A subgroup analysis was also performed at 104 hours of life (range: 96-134 hours) and at 3 weeks of age. RESULTS: At the first examination, all behavioral clusters were significantly altered in the group with moderate hyperbilirubinemia. The visual and auditory capabilities of the hyperbilirubinemic infant were especially compromised. Although social-interactive cluster scores significantly correlated both with serum bilirubinemia and birth weight, the former accounted for 8.7% of the variance and the latter accounted for only 4.7%. The moderate hyperbilirubinemia neonates' scores also showed a negative correlation with the autonomic system and more frequent presence of tremors. After 24 hours, a decrease in serum bilirubin within the moderate hyperbilirubinemic group was associated with improved scores. At 3 weeks of age, the behavioral assessment of the 2 groups did not show significant differences. CONCLUSIONS: Untreated moderate hyperbilirubinemia is associated with a transient and apparently reversible alteration of neonatal behavior, particularly in the social-interactive area.